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Protein

Aryl hydrocarbon receptor nuclear translocator 2

Gene

ARNT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function (PubMed:24022475). Specifically recognizes the xenobiotic response element (XRE).1 Publication

GO - Molecular functioni

  1. aryl hydrocarbon receptor binding Source: UniProtKB
  2. DNA binding Source: UniProtKB-KW
  3. protein heterodimerization activity Source: UniProtKB
  4. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  5. signal transducer activity Source: InterPro

GO - Biological processi

  1. brain development Source: UniProtKB
  2. central nervous system development Source: UniProtKB
  3. in utero embryonic development Source: UniProtKB
  4. negative regulation of apoptotic process Source: Ensembl
  5. positive regulation of cell proliferation Source: Ensembl
  6. positive regulation of transcription, DNA-templated Source: UniProtKB
  7. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  8. regulation of transcription, DNA-templated Source: MGI
  9. response to estradiol Source: Ensembl
  10. response to hypoxia Source: UniProtKB
  11. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Aryl hydrocarbon receptor nuclear translocator 2
Short name:
ARNT protein 2
Alternative name(s):
Class E basic helix-loop-helix protein 1
Short name:
bHLHe1
Gene namesi
Name:ARNT2
Synonyms:BHLHE1, KIAA0307
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:16876. ARNT2.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. cytoplasm Source: InterPro
  2. nucleus Source: UniProtKB
  3. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Webb-Dattani syndrome1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by postnatal microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, global developmental delay, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract.

See also OMIM:615926

Organism-specific databases

MIMi615926. phenotype.
Orphaneti370006. Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies.
PharmGKBiPA24995.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 717717Aryl hydrocarbon receptor nuclear translocator 2PRO_0000127122Add
BLAST

Proteomic databases

PaxDbiQ9HBZ2.
PRIDEiQ9HBZ2.

PTM databases

PhosphoSiteiQ9HBZ2.

Expressioni

Gene expression databases

BgeeiQ9HBZ2.
CleanExiHS_ARNT2.
ExpressionAtlasiQ9HBZ2. baseline and differential.
GenevestigatoriQ9HBZ2.

Organism-specific databases

HPAiCAB005081.
HPA001056.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer with the aryl hydrocarbon receptor (AHR) or the SIM1 protein. Interacts with TACC3 (By similarity).By similarity

Protein-protein interaction databases

BioGridi115244. 60 interactions.
IntActiQ9HBZ2. 4 interactions.
MINTiMINT-2867815.
STRINGi9606.ENSP00000307479.

Structurei

3D structure databases

ProteinModelPortaliQ9HBZ2.
SMRiQ9HBZ2. Positions 147-439.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini63 – 11654bHLHPROSITE-ProRule annotationAdd
BLAST
Domaini134 – 20976PAS 1PROSITE-ProRule annotationAdd
BLAST
Domaini323 – 39371PAS 2PROSITE-ProRule annotationAdd
BLAST
Domaini398 – 44144PACAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi73 – 764Poly-Arg
Compositional biasi440 – 4456Poly-Gln
Compositional biasi552 – 5554Poly-Ser

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
Contains 2 PAS (PER-ARNT-SIM) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG293303.
GeneTreeiENSGT00760000118788.
HOGENOMiHOG000234380.
HOVERGENiHBG000164.
InParanoidiQ9HBZ2.
KOiK15589.
OMAiVCMDMSG.
OrthoDBiEOG7V1FQ8.
PhylomeDBiQ9HBZ2.
TreeFamiTF319983.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR001067. Nuc_translocat.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
PF00989. PAS. 1 hit.
[Graphical view]
PRINTSiPR00785. NCTRNSLOCATR.
SMARTiSM00353. HLH. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 2 hits.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
SSF55785. SSF55785. 4 hits.
TIGRFAMsiTIGR00229. sensory_box. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
PS50112. PAS. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9HBZ2-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATPAAVNPP EMASDIPGSV TLPVAPMAAT GQVRMAGAMP ARGGKRRSGM
60 70 80 90 100
DFDDEDGEGP SKFSRENHSE IERRRRNKMT QYITELSDMV PTCSALARKP
110 120 130 140 150
DKLTILRMAV SHMKSMRGTG NKSTDGAYKP SFLTEQELKH LILEAADGFL
160 170 180 190 200
FVVAAETGRV IYVSDSVTPV LNQPQSEWFG STLYEQVHPD DVEKLREQLC
210 220 230 240 250
TSENSMTGRI LDLKTGTVKK EGQQSSMRMC MGSRRSFICR MRCGNAPLDH
260 270 280 290 300
LPLNRITTMR KRFRNGLGPV KEGEAQYAVV HCTGYIKAWP PAGMTIPEED
310 320 330 340 350
ADVGQGSKYC LVAIGRLQVT SSPVCMDMNG MSVPTEFLSR HNSDGIITFV
360 370 380 390 400
DPRCISVIGY QPQDLLGKDI LEFCHPEDQS HLRESFQQVV KLKGQVLSVM
410 420 430 440 450
YRFRTKNREW MLIRTSSFTF QNPYSDEIEY IICTNTNVKQ LQQQQAELEV
460 470 480 490 500
HQRDGLSSYD LSQVPVPNLP AGVHEAGKSV EKADAIFSQE RDPRFAEMFA
510 520 530 540 550
GISASEKKMM SSASAAGTQQ IYSQGSPFPS GHSGKAFSSS VVHVPGVNDI
560 570 580 590 600
QSSSSTGQNM SQISRQLNQS QVAWTGSRPP FPGQQIPSQS SKTQSSPFGI
610 620 630 640 650
GTSHTYPADP SSYSPLSSPA TSSPSGNAYS SLANRTPGFA ESGQSSGQFQ
660 670 680 690 700
GRPSEVWSQW QSQHHGQQSG EQHSHQQPGQ TEVFQDMLPM PGDPTQGTGN
710
YNIEDFADLG MFPPFSE
Length:717
Mass (Da):78,691
Last modified:February 6, 2007 - v2
Checksum:iAC7524E97F617252
GO
Isoform 2 (identifier: Q9HBZ2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.

Show »
Length:706
Mass (Da):77,612
Checksum:i2187A3C603EC7D39
GO

Sequence cautioni

The sequence AAH36099.1 differs from that shown.Probable cloning artifact.Curated
The sequence BAA20766.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti28 – 281A → V in BX647212. (PubMed:17974005)Curated
Sequence conflicti75 – 751R → K in BAA20766. (PubMed:9205841)Curated
Sequence conflicti555 – 5551S → P in BX647212. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti679 – 6791G → S.1 Publication
Corresponds to variant rs4072568 [ dbSNP | Ensembl ].
VAR_049538

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1111Missing in isoform 2. 2 PublicationsVSP_022687Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF185610
, AF185593, AF185594, AF185595, AF185596, AF185597, AF185598, AF185599, AF185600, AF185601, AF185602, AF185603, AF185604, AF185605, AF185606, AF185607, AF185608, AF185609 Genomic DNA. Translation: AAG15310.1.
AB002305 mRNA. Translation: BAA20766.2. Different initiation.
AK295763 mRNA. Translation: BAG58589.1.
BX647212 mRNA. No translation available.
CH471136 Genomic DNA. Translation: EAW99114.1.
BC036099 mRNA. Translation: AAH36099.1. Sequence problems.
CCDSiCCDS32307.1. [Q9HBZ2-1]
RefSeqiNP_055677.3. NM_014862.3. [Q9HBZ2-1]
UniGeneiHs.459070.

Genome annotation databases

EnsembliENST00000303329; ENSP00000307479; ENSG00000172379. [Q9HBZ2-1]
ENST00000527771; ENSP00000453792; ENSG00000172379. [Q9HBZ2-2]
ENST00000533983; ENSP00000453651; ENSG00000172379. [Q9HBZ2-2]
GeneIDi9915.
KEGGihsa:9915.
UCSCiuc002bfr.3. human. [Q9HBZ2-1]

Polymorphism databases

DMDMi125987793.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF185610
, AF185593, AF185594, AF185595, AF185596, AF185597, AF185598, AF185599, AF185600, AF185601, AF185602, AF185603, AF185604, AF185605, AF185606, AF185607, AF185608, AF185609 Genomic DNA. Translation: AAG15310.1.
AB002305 mRNA. Translation: BAA20766.2. Different initiation.
AK295763 mRNA. Translation: BAG58589.1.
BX647212 mRNA. No translation available.
CH471136 Genomic DNA. Translation: EAW99114.1.
BC036099 mRNA. Translation: AAH36099.1. Sequence problems.
CCDSiCCDS32307.1. [Q9HBZ2-1]
RefSeqiNP_055677.3. NM_014862.3. [Q9HBZ2-1]
UniGeneiHs.459070.

3D structure databases

ProteinModelPortaliQ9HBZ2.
SMRiQ9HBZ2. Positions 147-439.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115244. 60 interactions.
IntActiQ9HBZ2. 4 interactions.
MINTiMINT-2867815.
STRINGi9606.ENSP00000307479.

PTM databases

PhosphoSiteiQ9HBZ2.

Polymorphism databases

DMDMi125987793.

Proteomic databases

PaxDbiQ9HBZ2.
PRIDEiQ9HBZ2.

Protocols and materials databases

DNASUi9915.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303329; ENSP00000307479; ENSG00000172379. [Q9HBZ2-1]
ENST00000527771; ENSP00000453792; ENSG00000172379. [Q9HBZ2-2]
ENST00000533983; ENSP00000453651; ENSG00000172379. [Q9HBZ2-2]
GeneIDi9915.
KEGGihsa:9915.
UCSCiuc002bfr.3. human. [Q9HBZ2-1]

Organism-specific databases

CTDi9915.
GeneCardsiGC15P080696.
H-InvDBHIX0012493.
HGNCiHGNC:16876. ARNT2.
HPAiCAB005081.
HPA001056.
MIMi606036. gene.
615926. phenotype.
neXtProtiNX_Q9HBZ2.
Orphaneti370006. Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies.
PharmGKBiPA24995.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG293303.
GeneTreeiENSGT00760000118788.
HOGENOMiHOG000234380.
HOVERGENiHBG000164.
InParanoidiQ9HBZ2.
KOiK15589.
OMAiVCMDMSG.
OrthoDBiEOG7V1FQ8.
PhylomeDBiQ9HBZ2.
TreeFamiTF319983.

Miscellaneous databases

ChiTaRSiARNT2. human.
GeneWikiiARNT2.
GenomeRNAii9915.
NextBioi37404.
PROiQ9HBZ2.
SOURCEiSearch...

Gene expression databases

BgeeiQ9HBZ2.
CleanExiHS_ARNT2.
ExpressionAtlasiQ9HBZ2. baseline and differential.
GenevestigatoriQ9HBZ2.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR001067. Nuc_translocat.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
PF00989. PAS. 1 hit.
[Graphical view]
PRINTSiPR00785. NCTRNSLOCATR.
SMARTiSM00353. HLH. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 2 hits.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
SSF55785. SSF55785. 4 hits.
TIGRFAMsiTIGR00229. sensory_box. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
PS50112. PAS. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts."
    Barrow L.L., Wines M.E., Romitti P.A., Holdener B.C., Murray J.C.
    Teratology 66:85-90(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-679.
    Tissue: Brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Hippocampus.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Amygdala.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-694 (ISOFORM 1).
    Tissue: Brain.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: FUNCTION, INVOLVEMENT IN WEDAS.

Entry informationi

Entry nameiARNT2_HUMAN
AccessioniPrimary (citable) accession number: Q9HBZ2
Secondary accession number(s): B4DIS7, O15024, Q8IYC2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: February 6, 2007
Last modified: January 7, 2015
This is version 135 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.